DLX4 distal-less homeobox 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DLX4provided by HGNC
Official Full Name: distal-less homeobox 4provided by HGNC
Primary source: HGNC:HGNC:2917
See related: Ensembl:ENSG00000108813 MIM:601911; AllianceGenome:HGNC:2917
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BP1; DLX7; DLX8; DLX9; OFC15
Summary: Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are postulated to play a role in forebrain and craniofacial development. Three transcript variants have been described for this gene, however, the full length nature of one variant has not been described. Studies of the two splice variants revealed that one encoded isoform functions as a repressor of the beta-globin gene while the other isoform lacks that function. [provided by RefSeq, Jul 2008]
Expression: Biased expression in placenta (RPKM 1.9), skin (RPKM 0.3) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.33

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (49968572..49974959)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (50831764..50838100)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (48046554..48052323)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DNA methylation-mediated differential expression of DLX4 isoforms has opposing roles in leukemogenesis.
Title: DNA methylation-mediated differential expression of DLX4 isoforms has opposing roles in leukemogenesis.
Homeodomain protein DLX4 facilitates nasopharyngeal carcinoma progression via up-regulation of YB-1.
Title: Homeodomain protein DLX4 facilitates nasopharyngeal carcinoma progression via up-regulation of YB-1.
indicated the hypothesis that DLX4 variants contributing to nonsyndromic orofacial cleft risk should be interpreted with caution
Title: Association Between DLX4 Polymorphisms and Nonsyndromic Orofacial Clefts in a Chinese Han Population.
the role of BP1 protein in tumorigenesis of breast cancer and four other malignancies
Title: BP1, a potential biomarker for breast cancer prognosis.
Results demonstrate that high expression of BP1 is associated with poor prognosis in patients with endometrial cancer and promotes cell proliferation and migration.
Title: Overexpression of BP1, an isoform of Homeobox Gene DLX4, promotes cell proliferation, migration and predicts poor prognosis in endometrial cancer.
Beta protein 1 (BP1) binds to and regulates estrogen receptor.
Title: Beta protein 1 homeoprotein induces cell growth and estrogen-independent tumorigenesis by binding to the estrogen receptor in breast cancer.
study indicated that DLX4 hypermethylation was a frequent event and acted as an independent prognostic biomarker in de novo myelodysplastic syndrome patients
Title: Hypermethylation of DLX4 predicts poor clinical outcome in patients with myelodysplastic syndrome.
Our study reveals that BP1 overexpression serves as an independent risk factor in de novo AML patients.
Title: BP1 overexpression is associated with adverse prognosis in de novo acute myeloid leukemia.
Collectively, our findings indicate that DLX4 exerts opposing effects on the megakaryocytic and erythroid lineages in part by inducing IL-1beta and NF-kappaB signaling.
Title: The homeobox gene DLX4 regulates erythro-megakaryocytic differentiation by stimulating IL-1β and NF-κB signaling.
DLX4 induces CD44 by stimulating IL-1beta-mediated NF-kappaB activity, thereby promoting peritoneal metastasis of ovarian cancer
Title: The homeoprotein DLX4 stimulates NF-κB activation and CD44-mediated tumor-mesothelial cell interactions in ovarian cancer.

Submit: New GeneRIF Correction See all GeneRIFs (36)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Orofacial cleft 15 MedGen: C4225209 OMIM: 616788 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC20354P1 (e-PCR)
- UniSTS:271934

ksks321 (e-PCR)
- UniSTS:514366

RH36424 (e-PCR)
- UniSTS:9030

RH12668 (e-PCR)
- UniSTS:49797

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity	NAS Non-traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in embryonic skeletal system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: homeobox protein DLX-4

Names: beta protein 1; distal-less homeo box 7; distal-less homeo box 9; homeobox protein DLX-7; homeobox protein DLX-8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_030592.1 RefSeqGene

Range

4993..10762

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001934.4 → NP_001925.2 homeobox protein DLX-4 isoform b

See identical proteins and their annotated locations for NP_001925.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs at the 5' end, and utilizes an alternate start codon compared to variant 1. This results in a shorter isoform (b) with a distinct N-terminus compared to isoform a, and lacks the beta-globin repressor function.

Source sequence(s)

BC016145, BG479840, BX105774, CB131875, U73328

Consensus CDS

CCDS45728.1

UniProtKB/Swiss-Prot

Q92988

Related

ENSP00000410622.2, ENST00000411890.3

Conserved Domains (1) summary

pfam00046
Location:48 → 101

Homeobox; Homeobox domain
NM_138281.3 → NP_612138.1 homeobox protein DLX-4 isoform a

See identical proteins and their annotated locations for NP_612138.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a, also known as BP1), which functions as a repressor of the beta-globin gene.

Source sequence(s)

AC009720, BC016145, BX113580, CB131875, DR004878

Consensus CDS

CCDS11555.1

UniProtKB/Swiss-Prot

D3DTX2, D3DTX3, O60480, Q13265, Q6PJK0, Q92988, Q9HBE0

Related

ENSP00000240306.3, ENST00000240306.5

Conserved Domains (1) summary

pfam00046
Location:120 → 173

Homeobox; Homeobox domain